Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.G221E

c.662G>A

Surrounding Variants

3 papers

NM_000251.3

p.G221A

c.662G>C

1 paper

NM_000251.3

p.I222insFs

c.664dupA

2 papers

NM_000251.3

p.G221V

c.662G>T

1 paper

NM_000251.3

p.I222delFs

c.664delA

3 papers

NM_000251.3

p.G221G

c.663A>C

1 paper

NM_000251.3

p.G221_L223Fs

c.663_667delinsTACFs

2 papers

NM_000251.3

p.G221R

c.661G>A

2 papers

NM_000251.3

p.G221R

c.661G>C

1 paper

NM_000251.3

p.G221*

c.661G>T

1 paper

NM_000251.3

p.G221fs

c.661_662fs

1 paper

NM_000251.3

p.G221_I224del0

c.662_670del9

1 paper

NM_000251.3

p.I222_L223insC

c.664_668ins3